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GENE THERAPY SE DIKHAYI DENE LAGI BEHTAR VISION CONGENITAL BLINDNESS MEIN

 

GENE THERAPY SE DIKHAYI DENE LAGI BEHTAR VISION CONGENITAL BLINDNESS MEIN

 

Ek naye gene therapy, ATSN-101, ne rare congenital blindness ke ek type, Leber congenital amaurosis (LCA) 1, se peedit bade aur bacchon mein roshni ko mehsoos karne aur vision ko behtar banane ke promising results dikhaye hain. Ye LCA, GUCY2D gene mein mutation ke kaaran hoti hai. “The Lancet”mein chhapi ek early-phase clinical trial mein 15 patients ko shaamil kiya gaya aur roshni ko mehsoos karne mein khaas sudhar dekha gaya.


Gene therapy


Is trial ke dauran, 12 mahine ke ilaj ke baad, jinhonne therapy ka sabse highest dose liya unmein nazar ke bareek tafseel (fine details) dekhne ki kshamata mein sudhar dikha. Example ke taur par, patients ne eye test chart par lagbhag 8 letters behtar dekhe, jo ETDRS chart ke lagbhag 2 lines ke barabar hai. Halanki nazar ki tez kshamata (acuity) mein sudhar chhote the, lekin roshni ko mehsoos karne ki kshamata, khaaskar retine ke rods aur cones mein, sabse khaas baat thi.

Dr. Artur Cideciyan, jo lead researchers mein se ek hain, ne bataya ki kai saalon ke dysfunction ke baad bhi, gene therapy lene ke 8-10 din ke andar patients ke photoreceptors phir se kaam karne lage. Ye is baat ka sanket hai ki lambe samay se chale aa rahe congenital conditions bhi treat ho sakte hain, kyunki vision ke liye zimmedar cells apni poori kshamata nahi khote hain.

 

Roshni Mehsoos Karne Mein Behtari

Is study ka sabse exciting hissa roshni mehsoos karne ki kshamata mein achanak sudhar tha. Example ke taur par, dark-adapted full-field stimulus test (FST), jo andhere mein sabse kam roshni mehsoos karne ki kshamata ko naapta hai, mein patients ne bade sudhar dikhaye, kuch logon mein yeh sudhar 10,000 guna tak tha. High-dose lene wale 9 patients mein se 6 logon ne roshni mehsoos karne mein 10 dB ya usse zyada ka sudhar mehsoos kiya.

Dr. Darius Moshfeghi, jo ek retina specialist hain, ne kaha ki yeh pehli baar hai jab kisi inherited retinal disease mein gene therapy ke kaaran itna zyada vision function ka sudhar dekha gaya hai. Yeh dusre aise bimariyon ke ilaj mein bhi ummid jagata hai, kyunki photoreceptors saalon tak inactive rehne ke baad bhi apna kaam kar sakte hain.

 

Congenital blindness


Gene Therapy aur Procedure

ATSN-101 ek gene therapy hai jisme AAV5 vector ka istemal hota hai, jo human GUCY2D gene ko contain karta hai. Is therapy ko surgery ke zariye retina specialist retine ke neeche inject karta hai. Trial mein teen alag-alag doses ko test kiya gaya, aur pehle ke sudhar dekhne ke baad high dose ko 6 additional patients ko diya gaya (teen bade aur teen bachche).

 

Safety Concerns aur Learning Curve

Therapy ke promising hone ke bawjood kuch side effects bhi dekhne ko mile, khaaskar surgery se related. Study mein 68 treatment-related adverse events report kiye gaye, jisme 8 patients ko eye pressure kam hone ka (hypotony) anubhav hua aur kuch mein macular holes aur retinal detachment jaise complications bhi hue. Halanki yeh sab treatable the, lekin ye surgical techniques mein sudhar aur learning curve ki zarurat ko dikhata hai.

Kul mila ke, yeh results gene therapy ke future ke liye kaafi encouraging hain, khaaskar congenital blindness aur dusri inherited retinal diseases ke ilaj ke liye, jisse ummid jagti hai ki dormant photoreceptors ko dobara active kar ke vision wapas laya ja sakta hai.

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